Property Summary

NCBI Gene PubMed Count 22
PubMed Score 44.32
PubTator Score 45.67

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
lung carcinoma 2844 2.34647621228497E-23
non-small cell lung cancer 2798 1.70112630642049E-10
lung adenocarcinoma 2714 1.17863418440408E-9
tuberculosis 1563 2.73411859745874E-8
malignant mesothelioma 3163 4.53880424168965E-8
ovarian cancer 8492 2.8800558494105E-7
lung cancer 4473 2.34080904374682E-6
cystic fibrosis 1670 3.69424743926171E-5
pilocytic astrocytoma 3086 6.58223169401056E-5
glioblastoma 5572 9.60418819391603E-5
pediatric high grade glioma 2712 2.17004241703921E-4
intraductal papillary-mucinous adenoma (IPMA) 2956 2.50037628992203E-4
ductal carcinoma in situ 1745 3.34362185926703E-4
breast carcinoma 1614 3.93842441397416E-4
intraductal papillary-mucinous carcinoma (IPMC) 2988 4.91041091959885E-4
invasive ductal carcinoma 2950 6.64391812195929E-4
Rheumatoid Arthritis 1171 0.00113596213915239
osteosarcoma 7933 0.0015808523041711
group 4 medulloblastoma 1875 0.00171815785548201
atypical teratoid/rhabdoid tumor 1095 0.00670945532300362
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.00846714392548078
subependymal giant cell astrocytoma 2287 0.0108954515961381
ependymoma 2514 0.0213322694920849
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Premature ovarian failure 64 4.572 2.3
Disease Target Count Z-score Confidence
Chondrosarcoma 24 3.188 1.6
pterygium 74 3.171 1.6
Galactosemia 20 3.118 1.6
Disease Target Count
Premature ovarian failure 2A 1

Expression

Synonym

Accession O60879 A6NG19 O60878 Q8WX06 Q8WX48 Q9UJL2
Symbols DIA
POF
DIA2
DRF2
POF2

Gene

  Ortholog (9)

Species Source
Chimp OMA EggNOG
Macaque OMA Inparanoid
Mouse OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA Inparanoid
Pig OMA Inparanoid
Opossum OMA EggNOG Inparanoid
Anole lizard OMA Inparanoid
Zebrafish EggNOG Inparanoid

 GO Function (1)

Gene RIF (8)

PMID Text
24403606 Dia1, Dia2, and Dia3 are involved in ErbB2-dependent capture of microtubules at the cell leading edge and ErbB2-driven guided migration.
24037343 DIAPH2 has been associated with premature ovarian insufficiency, an aging phenotype in humans.
23620398 In podocytes, INF2 appears to be an important modulator of actin-dependent behaviors that are under the control of Rho/mDia signaling.
23024796 Dia2 and DIP co-tether to nascent blebs and this linkage is required for bleb formation.
22685410 Long HIV filopodial formation in infected dendritic cells was dependent on the formin diaphanous 2 (Diaph2)
21386871 Our results indicated that DIAPH2 may be a polygenic pleiotropy for premature ovarian failure (POF) and AMD.
20734064 Observational study of gene-disease association. (HuGE Navigator)
18044991 Dia2 plays an important role in formation of lamellipodia.

AA Sequence

MEQPGAAASGAGGGSEEPGGGRSNKRSAGNRAANEEETKNKPKLNIQIKTLADDVRDRITSFRKSTVKKE      1 - 70
KPLIQHPIDSQVAMSEFPAAQPLYDERSLNLSEKEVLDLFEKMMEDMNLNEEKKAPLRNKDFTTKREMVV     71 - 140
QYISATAKSGGLKNSKHECTLSSQEYVHELRSGISDEKLLNCLESLRVSLTSNPVSWVNNFGHEGLGLLL    141 - 210
DELEKLLDKKQQENIDKKNQYKLIQCLKAFMNNKFGLQRILGDERSLLLLARAIDPKQPNMMTEIVKILS    211 - 280
AICIVGEENILDKLLGAITTAAERNNRERFSPIVEGLENQEALQLQVACMQFINALVTSPYELDFRIHLR    281 - 350
NEFLRSGLKTMLPDLKEKENDELDIQLKVFDENKEDDLTELSHRLNDIRAEMDDMNEVYHLLYNMLKDTA    351 - 420
AENYFLSILQHFLLIRNDYYIRPQYYKIIEECVSQIVLHCSGMDPDFKYRQRLDIDLTHLIDSCVNKAKV    421 - 490
EESEQKAAEFSKKFDEEFTARQEAQAELQKRDEKIKELEAEIQQLRTQAQVLSSSSGIPGPPAAPPLPGV    491 - 560
GPPPPPPAPPLPGGAPLPPPPPPLPGMMGIPPPPPPPLLFGGPPPPPPLGGVPPPPGISLNLPYGMKQKK    561 - 630
MYKPEVSMKRINWSKIEPTELSENCFWLRVKEDKFENPDLFAKLALNFATQIKVQKNAEALEEKKTGPTK    631 - 700
KKVKELRILDPKTAQNLSIFLGSYRMPYEDIRNVILEVNEDMLSEALIQNLVKHLPEQKILNELAELKNE    701 - 770
YDDLCEPEQFGVVMSSVKMLQPRLSSILFKLTFEEHINNIKPSIIAVTLACEELKKSESFNRLLELVLLV    771 - 840
GNYMNSGSRNAQSLGFKINFLCKIRDTKSADQKTTLLHFIADICEEKYRDILKFPEELEHVESASKVSAQ    841 - 910
ILKSNLASMEQQIVHLERDIKKFPQAENQHDKFVEKMTSFTKTAREQYEKLSTMHNNMMKLYENLGEYFI    911 - 980
FDSKTVSIEEFFGDLNNFRTLFLEAVRENNKRREMEEKTRRAKLAKEKAEQEKLERQKKKKQLIDINKEG    981 - 1050
DETGVMDNLLEALQSGAAFRDRRKRIPRNPDNRRVPLERSRSRHNGAISSK                      1051 - 1101
//

Text Mined References (25)

PMID Year Title
24403606 2014 Essential and nonredundant roles for Diaphanous formins in cortical microtubule capture and directed cell migration.
24037343 2014 Identification of genes promoting skin youthfulness by genome-wide association study.
23620398 2013 Inverted formin 2 regulates actin dynamics by antagonizing Rho/diaphanous-related formin signaling.
23024796 2012 Dia-interacting protein (DIP) imposes migratory plasticity in mDia2-dependent tumor cells in three-dimensional matrices.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22685410 2012 Mobilization of HIV spread by diaphanous 2 dependent filopodia in infected dendritic cells.
21386871 2011 Simple strategies for haplotype analysis of the X chromosome with application to age-related macular degeneration.
21269460 2011 Initial characterization of the human central proteome.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
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